Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

Natacha SlobodaLaetitia LambertViorica CiornaAnge-Line BruelFrédéric Tran Mau-ThemVladimir GomolaJean-Louis LemelleOlivier KleinMarie-Christine Camoin-SchweitzerMarie MagnavaccaCarole LegagneurMarie-Laure EzstoCéline BonnetChristophe PhilippeBruno Leheup

Published in: Molecular genetics & genomic medicine (2022)

Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperforation are not reported in male BBS4 patients to date. We discuss the possible hypotheses for this phenotype, including the phenotypic overlap between ciliopathies.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
case report
high grade